Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277043G>ACA59794494SCN1A-AS1,SCN9Ac.2814C>T (p.Val938=)
c.2781C>T (p.Val927=)
c.471C>T (p.Val157=)
c.1816C>T
n.870-45G>A
c.2427C>T (p.Val809=)
c.2070C>T (p.Val690=)
n.3128C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277043G>CCA429978016SCN1A-AS1,SCN9Ac.2814C>G (p.Val938=)
c.2781C>G (p.Val927=)
c.471C>G (p.Val157=)
c.1816C>G
n.870-45G>C
c.2427C>G (p.Val809=)
c.2070C>G (p.Val690=)
n.3128C>G
2g.166277043G=CA1304964739SCN1A-AS1,SCN9Ac.2814C= (p.Val938=)
c.2781C= (p.Val927=)
c.471C= (p.Val157=)
c.1816C=
n.870-45G=
c.2427C= (p.Val809=)
c.2070C= (p.Val690=)
n.3128C=
2g.166277043G>TCA429978018SCN1A-AS1,SCN9Ac.2814C>A (p.Val938=)
c.2781C>A (p.Val927=)
c.471C>A (p.Val157=)
c.1816C>A
n.870-45G>T
c.2427C>A (p.Val809=)
c.2070C>A (p.Val690=)
n.3128C>A
2g.166277044A>CCA349077205SCN1A-AS1,SCN9Ac.2813T>G (p.Val938Gly)
c.2780T>G (p.Val927Gly)
c.470T>G (p.Val157Gly)
c.1815T>G
n.870-44A>C
c.2426T>G (p.Val809Gly)
c.2069T>G (p.Val690Gly)
n.3127T>G
2g.166277044A>GCA349077207SCN1A-AS1,SCN9Ac.2813T>C (p.Val938Ala)
c.2780T>C (p.Val927Ala)
c.470T>C (p.Val157Ala)
c.1815T>C
n.870-44A>G
c.2426T>C (p.Val809Ala)
c.2069T>C (p.Val690Ala)
n.3127T>C
2g.166277044A>TCA349077211SCN1A-AS1,SCN9Ac.2813T>A (p.Val938Asp)
c.2780T>A (p.Val927Asp)
c.470T>A (p.Val157Asp)
c.1815T>A
n.870-44A>T
c.2426T>A (p.Val809Asp)
c.2069T>A (p.Val690Asp)
n.3127T>A
2g.166277045C>ACA349077217SCN1A-AS1,SCN9Ac.2812G>T (p.Val938Phe)
c.2779G>T (p.Val927Phe)
c.469G>T (p.Val157Phe)
c.1814G>T
n.870-43C>A
c.2425G>T (p.Val809Phe)
c.2068G>T (p.Val690Phe)
n.3126G>T
2g.166277045C>GCA349077220SCN1A-AS1,SCN9Ac.2812G>C (p.Val938Leu)
c.2779G>C (p.Val927Leu)
c.469G>C (p.Val157Leu)
c.1814G>C
n.870-43C>G
c.2425G>C (p.Val809Leu)
c.2068G>C (p.Val690Leu)
n.3126G>C
2g.166277045C>TCA349077223SCN1A-AS1,SCN9Ac.2812G>A (p.Val938Ile)
c.2779G>A (p.Val927Ile)
c.469G>A (p.Val157Ile)
c.1814G>A
n.870-43C>T
c.2425G>A (p.Val809Ile)
c.2068G>A (p.Val690Ile)
n.3126G>A
2g.166277046C>ACA349077230SCN1A-AS1,SCN9Ac.2811G>T (p.Glu937Asp)
c.2778G>T (p.Glu926Asp)
c.468G>T (p.Glu156Asp)
c.1813G>T
n.870-42C>A
c.2424G>T (p.Glu808Asp)
c.2067G>T (p.Glu689Asp)
n.3125G>T
2g.166277046C=CA1304964741SCN1A-AS1,SCN9Ac.2811G= (p.Glu937=)
c.2778G= (p.Glu926=)
c.468G= (p.Glu156=)
c.1813G=
n.870-42C=
c.2424G= (p.Glu808=)
c.2067G= (p.Glu689=)
n.3125G=
2g.166277046C>GCA349077227SCN1A-AS1,SCN9Ac.2811G>C (p.Glu937Asp)
c.2778G>C (p.Glu926Asp)
c.468G>C (p.Glu156Asp)
c.1813G>C
n.870-42C>G
c.2424G>C (p.Glu808Asp)
c.2067G>C (p.Glu689Asp)
n.3125G>C
2g.166277046C>TCA429978022SCN1A-AS1,SCN9Ac.2811G>A (p.Glu937=)
c.2778G>A (p.Glu926=)
c.468G>A (p.Glu156=)
c.1813G>A
n.870-42C>T
c.2424G>A (p.Glu808=)
c.2067G>A (p.Glu689=)
n.3125G>A
 dbSNP
2g.166277047T>ACA1944200SCN1A-AS1,SCN9Ac.2810A>T (p.Glu937Val)
c.2777A>T (p.Glu926Val)
c.467A>T (p.Glu156Val)
c.1812A>T
n.870-41T>A
c.2423A>T (p.Glu808Val)
c.2066A>T (p.Glu689Val)
n.3124A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277047T>CCA349077236SCN1A-AS1,SCN9Ac.2810A>G (p.Glu937Gly)
c.2777A>G (p.Glu926Gly)
c.467A>G (p.Glu156Gly)
c.1812A>G
n.870-41T>C
c.2423A>G (p.Glu808Gly)
c.2066A>G (p.Glu689Gly)
n.3124A>G
2g.166277047T>GCA349077242SCN1A-AS1,SCN9Ac.2810A>C (p.Glu937Ala)
c.2777A>C (p.Glu926Ala)
c.467A>C (p.Glu156Ala)
c.1812A>C
n.870-41T>G
c.2423A>C (p.Glu808Ala)
c.2066A>C (p.Glu689Ala)
n.3124A>C
2g.166277047T=CA1304964748SCN1A-AS1,SCN9Ac.2810A= (p.Glu937=)
c.2777A= (p.Glu926=)
c.467A= (p.Glu156=)
c.1812A=
n.870-41T=
c.2423A= (p.Glu808=)
c.2066A= (p.Glu689=)
n.3124A=
2g.166277048C>ACA349077248SCN1A-AS1,SCN9Ac.2809G>T (p.Glu937Ter)
c.2776G>T (p.Glu926Ter)
c.466G>T (p.Glu156Ter)
c.1811G>T
n.870-40C>A
c.2422G>T (p.Glu808Ter)
c.2065G>T (p.Glu689Ter)
n.3123G>T
 dbSNP
2g.166277048C=CA1304964751SCN1A-AS1,SCN9Ac.2809G= (p.Glu937=)
c.2776G= (p.Glu926=)
c.466G= (p.Glu156=)
c.1811G=
n.870-40C=
c.2422G= (p.Glu808=)
c.2065G= (p.Glu689=)
n.3123G=
2g.166277048C>GCA349077262SCN1A-AS1,SCN9Ac.2809G>C (p.Glu937Gln)
c.2776G>C (p.Glu926Gln)
c.466G>C (p.Glu156Gln)
c.1811G>C
n.870-40C>G
c.2422G>C (p.Glu808Gln)
c.2065G>C (p.Glu689Gln)
n.3123G>C
2g.166277048C>TCA59794502SCN1A-AS1,SCN9Ac.2809G>A (p.Glu937Lys)
c.2776G>A (p.Glu926Lys)
c.466G>A (p.Glu156Lys)
c.1811G>A
n.870-40C>T
c.2422G>A (p.Glu808Lys)
c.2065G>A (p.Glu689Lys)
n.3123G>A
 dbSNP
2g.166277049C>ACA349077271SCN1A-AS1,SCN9Ac.2808G>T (p.Met936Ile)
c.2775G>T (p.Met925Ile)
c.465G>T (p.Met155Ile)
c.1810G>T
n.870-39C>A
c.2421G>T (p.Met807Ile)
c.2064G>T (p.Met688Ile)
n.3122G>T
2g.166277049C>GCA349077276SCN1A-AS1,SCN9Ac.2808G>C (p.Met936Ile)
c.2775G>C (p.Met925Ile)
c.465G>C (p.Met155Ile)
c.1810G>C
n.870-39C>G
c.2421G>C (p.Met807Ile)
c.2064G>C (p.Met688Ile)
n.3122G>C
2g.166277049C>TCA349077274SCN1A-AS1,SCN9Ac.2808G>A (p.Met936Ile)
c.2775G>A (p.Met925Ile)
c.465G>A (p.Met155Ile)
c.1810G>A
n.870-39C>T
c.2421G>A (p.Met807Ile)
c.2064G>A (p.Met688Ile)
n.3122G>A
 gnomAD v4
2g.166277050A>CCA349077281SCN1A-AS1,SCN9Ac.2807T>G (p.Met936Arg)
c.2774T>G (p.Met925Arg)
c.464T>G (p.Met155Arg)
c.1809T>G
n.870-38A>C
c.2420T>G (p.Met807Arg)
c.2063T>G (p.Met688Arg)
n.3121T>G
2g.166277050A>GCA349077283SCN1A-AS1,SCN9Ac.2807T>C (p.Met936Thr)
c.2774T>C (p.Met925Thr)
c.464T>C (p.Met155Thr)
c.1809T>C
n.870-38A>G
c.2420T>C (p.Met807Thr)
c.2063T>C (p.Met688Thr)
n.3121T>C
 ClinVar dbSNP
2g.166277050A>TCA349077287SCN1A-AS1,SCN9Ac.2807T>A (p.Met936Lys)
c.2774T>A (p.Met925Lys)
c.464T>A (p.Met155Lys)
c.1809T>A
n.870-38A>T
c.2420T>A (p.Met807Lys)
c.2063T>A (p.Met688Lys)
n.3121T>A
2g.166277051T>ACA349077291SCN1A-AS1,SCN9Ac.2806A>T (p.Met936Leu)
c.2773A>T (p.Met925Leu)
c.463A>T (p.Met155Leu)
c.1808A>T
n.870-37T>A
c.2419A>T (p.Met807Leu)
c.2062A>T (p.Met688Leu)
n.3120A>T
2g.166277051T>CCA349077294SCN1A-AS1,SCN9Ac.2806A>G (p.Met936Val)
c.2773A>G (p.Met925Val)
c.463A>G (p.Met155Val)
c.1808A>G
n.870-37T>C
c.2419A>G (p.Met807Val)
c.2062A>G (p.Met688Val)
n.3120A>G
 dbSNP gnomAD v2
2g.166277051T>GCA349077296SCN1A-AS1,SCN9Ac.2806A>C (p.Met936Leu)
c.2773A>C (p.Met925Leu)
c.463A>C (p.Met155Leu)
c.1808A>C
n.870-37T>G
c.2419A>C (p.Met807Leu)
c.2062A>C (p.Met688Leu)
n.3120A>C
2g.166277051T=CA1304964754SCN1A-AS1,SCN9Ac.2806A= (p.Met936=)
c.2773A= (p.Met925=)
c.463A= (p.Met155=)
c.1808A=
n.870-37T=
c.2419A= (p.Met807=)
c.2062A= (p.Met688=)
n.3120A=
2g.166277052A=CA1304964758SCN1A-AS1,SCN9Ac.2805T= (p.Cys935=)
c.2772T= (p.Cys924=)
c.462T= (p.Cys154=)
c.1807T=
n.870-36A=
c.2418T= (p.Cys806=)
c.2061T= (p.Cys687=)
n.3119T=
2g.166277052A>CCA349077300SCN1A-AS1,SCN9Ac.2805T>G (p.Cys935Trp)
c.2772T>G (p.Cys924Trp)
c.462T>G (p.Cys154Trp)
c.1807T>G
n.870-36A>C
c.2418T>G (p.Cys806Trp)
c.2061T>G (p.Cys687Trp)
n.3119T>G
2g.166277052A>GCA59794504SCN1A-AS1,SCN9Ac.2805T>C (p.Cys935=)
c.2772T>C (p.Cys924=)
c.462T>C (p.Cys154=)
c.1807T>C
n.870-36A>G
c.2418T>C (p.Cys806=)
c.2061T>C (p.Cys687=)
n.3119T>C
 dbSNP
2g.166277052A>TCA349077304SCN1A-AS1,SCN9Ac.2805T>A (p.Cys935Ter)
c.2772T>A (p.Cys924Ter)
c.462T>A (p.Cys154Ter)
c.1807T>A
n.870-36A>T
c.2418T>A (p.Cys806Ter)
c.2061T>A (p.Cys687Ter)
n.3119T>A
2g.166277053C>ACA349077307SCN1A-AS1,SCN9Ac.2804G>T (p.Cys935Phe)
c.2771G>T (p.Cys924Phe)
c.461G>T (p.Cys154Phe)
c.1806G>T
n.870-35C>A
c.2417G>T (p.Cys806Phe)
c.2060G>T (p.Cys687Phe)
n.3118G>T
2g.166277053C=CA1304964763SCN1A-AS1,SCN9Ac.2804G= (p.Cys935=)
c.2771G= (p.Cys924=)
c.461G= (p.Cys154=)
c.1806G=
n.870-35C=
c.2417G= (p.Cys806=)
c.2060G= (p.Cys687=)
n.3118G=
2g.166277053C>GCA349077311SCN1A-AS1,SCN9Ac.2804G>C (p.Cys935Ser)
c.2771G>C (p.Cys924Ser)
c.461G>C (p.Cys154Ser)
c.1806G>C
n.870-35C>G
c.2417G>C (p.Cys806Ser)
c.2060G>C (p.Cys687Ser)
n.3118G>C
2g.166277053C>TCA59794516SCN1A-AS1,SCN9Ac.2804G>A (p.Cys935Tyr)
c.2771G>A (p.Cys924Tyr)
c.461G>A (p.Cys154Tyr)
c.1806G>A
n.870-35C>T
c.2417G>A (p.Cys806Tyr)
c.2060G>A (p.Cys687Tyr)
n.3118G>A
 dbSNP gnomAD v4
2g.166277054A>CCA349077318SCN1A-AS1,SCN9Ac.2803T>G (p.Cys935Gly)
c.2770T>G (p.Cys924Gly)
c.460T>G (p.Cys154Gly)
c.1805T>G
n.870-34A>C
c.2416T>G (p.Cys806Gly)
c.2059T>G (p.Cys687Gly)
n.3117T>G
2g.166277054A>GCA349077325SCN1A-AS1,SCN9Ac.2803T>C (p.Cys935Arg)
c.2770T>C (p.Cys924Arg)
c.460T>C (p.Cys154Arg)
c.1805T>C
n.870-34A>G
c.2416T>C (p.Cys806Arg)
c.2059T>C (p.Cys687Arg)
n.3117T>C
2g.166277054A>TCA349077322SCN1A-AS1,SCN9Ac.2803T>A (p.Cys935Ser)
c.2770T>A (p.Cys924Ser)
c.460T>A (p.Cys154Ser)
c.1805T>A
n.870-34A>T
c.2416T>A (p.Cys806Ser)
c.2059T>A (p.Cys687Ser)
n.3117T>A
 gnomAD v4
2g.166277055G>ACA429978041SCN1A-AS1,SCN9Ac.2802C>T (p.Asp934=)
c.2769C>T (p.Asp923=)
c.459C>T (p.Asp153=)
c.1804C>T
n.870-33G>A
c.2415C>T (p.Asp805=)
c.2058C>T (p.Asp686=)
n.3116C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166277055G>CCA349077328SCN1A-AS1,SCN9Ac.2802C>G (p.Asp934Glu)
c.2769C>G (p.Asp923Glu)
c.459C>G (p.Asp153Glu)
c.1804C>G
n.870-33G>C
c.2415C>G (p.Asp805Glu)
c.2058C>G (p.Asp686Glu)
n.3116C>G
2g.166277055G=CA1304964767SCN1A-AS1,SCN9Ac.2802C= (p.Asp934=)
c.2769C= (p.Asp923=)
c.459C= (p.Asp153=)
c.1804C=
n.870-33G=
c.2415C= (p.Asp805=)
c.2058C= (p.Asp686=)
n.3116C=
2g.166277055G>TCA349077331SCN1A-AS1,SCN9Ac.2802C>A (p.Asp934Glu)
c.2769C>A (p.Asp923Glu)
c.459C>A (p.Asp153Glu)
c.1804C>A
n.870-33G>T
c.2415C>A (p.Asp805Glu)
c.2058C>A (p.Asp686Glu)
n.3116C>A
2g.166277056T>ACA349077335SCN1A-AS1,SCN9Ac.2801A>T (p.Asp934Val)
c.2768A>T (p.Asp923Val)
c.458A>T (p.Asp153Val)
c.1803A>T
n.870-32T>A
c.2414A>T (p.Asp805Val)
c.2057A>T (p.Asp686Val)
n.3115A>T
2g.166277056T>CCA349077342SCN1A-AS1,SCN9Ac.2801A>G (p.Asp934Gly)
c.2768A>G (p.Asp923Gly)
c.458A>G (p.Asp153Gly)
c.1803A>G
n.870-32T>C
c.2414A>G (p.Asp805Gly)
c.2057A>G (p.Asp686Gly)
n.3115A>G
2g.166277056T>GCA349077338SCN1A-AS1,SCN9Ac.2801A>C (p.Asp934Ala)
c.2768A>C (p.Asp923Ala)
c.458A>C (p.Asp153Ala)
c.1803A>C
n.870-32T>G
c.2414A>C (p.Asp805Ala)
c.2057A>C (p.Asp686Ala)
n.3115A>C
 ClinVar dbSNP

Number of alleles fetched